Geneius is a great tool that utilizes the power of artificial intelligence and machine learning algorithms to analyze genetic data and provide insights into the clinical consequences of a person’s genetic makeup. It leverages large clinical genomics and disease ontology databases and utilizes advanced computational algorithms to identify impactful genomic alterations that may be difficult to detect using traditional genetic analysis techniques It provides a reduced set of variants most likely to be a concise and prioritized list of variants that are deemed medically significant based on a given case description, thus enabling clinicians to focus on the most relevant genomic alterations for diagnosis and treatment.
Unlike human geneticists, Geneius can analyze genetic data much more quickly and efficiently. It can enhance the efficiency of human geneticists by facilitating relevant medical and phenotypic ontology terms used by medical genomics databases such as Clinvar and OMIM. It can process large amounts of data in a short amount of time, which can also be very helpful for researchers who are trying to identify new genetic associations.
One of the key benefits of using Geneius is its ability to analyze genetic data with a high degree of accuracy and precision. It can identify patterns and associations that may be missed by human geneticists, which can lead to new discoveries and insights.
Geneius can also be used to develop predictive models that can help researchers understand how certain genetic variations may affect disease risk or other traits. These models can be used to develop new treatments or therapies that are tailored to specific individuals based on their genetic profile.
Geneius can continually learn and adapt as more genetic data become available. This can help labs to stay up-to-date with the latest developments in genetic testing and provide more accurate and relevant insights to patients and clinicians.
Data Input: Geneius requires genetic data single nucleotide variant (SNV), optional copy number variation (CNV) from target individuals, which can be obtained through various methods such as DNA sequencing. Subsequently, a verification process is initiated to ensure the integrity of the files.
Data Analysis: It uses algorithms to predict phenotypic consequences of a genomic alteration or mutation.
Variant Classification: Geneius then assigns a classification to each identified variant based on the provided case description and the known clinical significance of the variant.
Summary: Geneius provides a comprehensive summary and also ranks the most likely impactful alterations relevant to the case description aiding researchers and healthcare professionals in making informed decisions about genetic variants and linking them to various resources.